infini.TO - 1 de cada 300.000 personas es diagnosticada de Sd. de Rubinstein -Taybi. Es un síndrome malformativo de origen genético poco frecuente caracterizado por anomalías congénitas (microcefalia, características faciales específicas y pulgares
2008 | The Foot and Ankle Online Journal | Page 4
Síndrome de Rubinstein-Taybi: Causas, características y tratamiento - CSC
Síndrome de Rubinstein-Taybi - Wikipedia, la enciclopedia libre
Síndrome de Rubinstein-Taybi
A, Patient 13 at the age of 23 years. Note sloping forehead,... | Download Scientific Diagram
Síndrome de Rubinstein-Taybi
Rubinstein–Taybi syndrome in diverse populations - Tekendo‐Ngongang - 2020 - American Journal of Medical Genetics Part A - Wiley Online Library
a-c) Characteristic facial profile of two patients | Open-i
Síndrome de Rubinstein-Taybi asociado a hipoplasia de una extremidad. Comunicación de un caso neonatal
IJMS | Free Full-Text | Whole Exome Sequencing for a Patient with Rubinstein -Taybi Syndrome Reveals de Novo Variants besides an Overt CREBBP Mutation
Mosaic CREBBP mutation causes overlapping clinical features of Rubinstein– Taybi and Filippi syndromes | European Journal of Human Genetics
Face scanning and spontaneous emotion preference in Cornelia de Lange syndrome and Rubinstein-Taybi syndrome | Journal of Neurodevelopmental Disorders | Full Text
Rubinstein taybi presentation | PPT
Divergent variant patterns among 19 patients with Rubinstein‐Taybi syndrome uncovered by comprehensive genetic analysis including whole genome sequencing - Enomoto - 2022 - Clinical Genetics - Wiley Online Library
Rubinstein-Taybi syndrome: MedlinePlus Genetics
Síndrome de Rubinstein-Taybi - Nepsa Rehabilitación Neurológica
Rubinstein–Taybi syndrome in diverse populations - Tekendo‐Ngongang - 2020 - American Journal of Medical Genetics Part A - Wiley Online Library
Rubinstein-Taybi syndrome: MedlinePlus Genetics
FISH studies in 45 patients with Rubinstein-Taybi syndrome: deletions associated with polysplenia, hypoplastic left heart and de
Two adults with Rubinstein–Taybi syndrome with mild mental retardation, glaucoma, normal growth and skull circumference, and camptodactyly of third fingers - Wieczorek - 2009 - American Journal of Medical Genetics Part A -
Two adults with Rubinstein–Taybi syndrome with mild mental retardation, glaucoma, normal growth and skull circumference, and camptodactyly of third fingers - Wieczorek - 2009 - American Journal of Medical Genetics Part A -
Expanding the phenotype associated to KMT2A variants: overlapping clinical signs between Wiedemann–Steiner and Rubinstein–Taybi syndromes | European Journal of Human Genetics
Síndrome de Rubinstein Taybi: características fenotípicas, reporte de caso.
SciELO - Brasil - Síndrome de Rubinstein-Taybi: anomalias físicas, manifestações clínicas e avaliação auditiva Síndrome de Rubinstein-Taybi: anomalias físicas, manifestações clínicas e avaliação auditiva